The development of blood clots (thrombi) is a natural process whereby the organism prevents the loss of blood following injury. Thrombosis is a term used for states when a blood clot forms inside a vessel and thus prevents blood from flowing freely. Fifteen to twenty-five thousand new cases of venous thrombosis are diagnosed annually in the Czech Republic. In certain cases, such a situation can be life threatening with fatal complications. The risk factors of this disease include alterations in genes that lead to the over-production of certain proteins that increase blood clotting.
Thrombosis presents with various symptoms. Most frequently, these include painful oedema of an extremity, but also e.g. of the head, neck etc. The symptoms vary in intensity depending on how large a section of the vascular bed is “blocked”. Thrombosis of the pelvic veins and deep veins of the lower extremities is dangerous, as there is a risk of the clot breaking loose (which we then term an embolus) and being carried by the veins into the lungs, where it impedes blood flow through the lungs and oxygenation (this complication is termed a pulmonary embolism and represents a life-threatening state).
The risk factors for developing thrombosis include the slowing down of blood flow e.g. due to immobilisation when one is bedridden or when one is travelling by airplane, as well as decreased hydration (blood becomes viscous), cancer (tumours sometimes produce substances that promote blood clotting), major surgery (limited mobility after surgery, release of substances that promote blood clotting), varicose veins of the lower extremities and venous insufficiency (slowing down of blood flow), hormonal contraceptives (even the new generation of contraceptives may lead to a coagulation disorder). All these risks are augmented in persons with a genetically encoded increased tendency towards clotting (so-called thrombophilia).
Treatment
The treatment of blood clots is based on the administration of substances that either prevent further increase in the size of the thrombus or that directly dissolve the clot. This involves the administration of drugs in the form of injections or tablets that “dilute blood”.
Prevention
In order to prevent the development of thrombosis, we try to avert the slowing down of blood flow in vessels. For this purpose, so-called compressive stockings are used to compress superficial veins and force the blood to flow faster in the deep veins. Drugs that act against blood clotting are also administered, and naturally dietary and other measures- e.g. more physical activity (early physiotherapy following surgical procedures, walking in the aisle during longer flights or at least flexing the muscles of the lower extremities when seated), cessation of smoking (toxins contained in cigarettes damage the internal lining of blood vessels!), losing weight in the case of obese persons.
How can GenScan reveal an increased risk of thrombosis?
Determination of an increased risk of thrombosis is based on the detection of those genes that have been shown to disturb the equilibrium of the formation and dissolution of blood clots. These are cases, where the organism produces to a greater extent than necessary substances that lead to blood clotting. A person with such an increased risk need not develop thrombosis for many years or even ever, but under certain conditions, e.g. hormonal contraceptives or in case they are bedridden, their primarily disrupted equilibrium is further skewed in a pathological direction, so that thrombosis manifests.
GenScan analysis studies a total of eight variants of these genes. Thanks to this analysis, we are capable of determining very accurately the incidence of a congenital increased risk of thrombosis. Apart from a specific regimen, the physician will recommend to persons who carry the genes studied treatment with a suitable preparation.
We would recommend this examination especially to all girls and women who are considering hormonal contraceptives or are already using it, as this treatment in persons with genetic predispositions leads to thrombotic complications at an early age including e.g. stroke and sudden paralysis. A fact that is not emphasised enough. Naturally, in such cases the use of any form of hormonal contraceptives is clearly not recommended.